Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DNAH9_chr17_11593470_11974748	11694826	T T	TTCTCTCT others(21): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0025 a0025	a0025c0032 a0025c0032	a0025c0032t0001 a0025c0032t0001	a0025c0032t0001g0100 a0025c0032t0001g0100	1	178	0.0056	28	c.487 others(45): Show c.4872+382_4872+383insCTCTCTCTCTCTCTCTCTCTCTCTCTCT	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	22/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH9_chr17_11593470_11974748	11812026	A A	AAAAAAAA others(21): Show AAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0004 a0004	a0004c0120 a0004c0120	a0004c0120t0001 a0004c0120t0001	a0004c0120t0001g0178 a0004c0120t0001g0178	1	178	0.0056	28	c.870 others(47): Show c.8707+1658_8707+1659insAAAAAAAAAATATATATATATATATA TA	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	45/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH9_chr17_11593470_11974748	11843863	G G	GTGTGTGT others(21): Show GTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0005 a0005	a0005c0108 a0005c0108	a0005c0108t0001 a0005c0108t0001	a0005c0108t0001g0030 a0005c0108t0001g0030	1	178	0.0056	28	c.950 others(47): Show c.9507+8966_9507+8967insGTGTGTGTATATATATATATATATAT AT	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	49/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH9_chr17_11593470_11974748	11843863	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0003 a0001c0053t0003	a0001c0053t0003g0021 a0001c0053t0003g0021	1	178	0.0056	28	c.950 others(47): Show c.9507+8966_9507+8967insGTGTGTGTGTATATATATATATATAT AT	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	49/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH9_chr17_11593470_11974748	11843863	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0069 a0069	a0069c0022 a0069c0022	a0069c0022t0001 a0069c0022t0001	a0069c0022t0001g0002 a0069c0022t0001g0002	1	178	0.0056	28	c.950 others(47): Show c.9507+8966_9507+8967insGTGTGTGTGTGTATATATATATATAT AT	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	49/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH9_chr17_11593470_11974748	11926035	G G	GAAAAAAA others(21): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0072 a0072	a0072c0088 a0072c0088	a0072c0088t0001 a0072c0088t0001	a0072c0088t0001g0165 a0072c0088t0001g0165	1	178	0.0056	28	c.118 others(49): Show c.11877+2121_11877+2122insAAAAAAAAAAAAAAAAAAAAAAAA AAAA	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	62/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH9_chr17_11593470_11974748	11960435	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0171 a0001c0003t0001g0171	1	178	0.0056	28	c.128 others(49): Show c.12844-1405_12844-1404insAAAAAAAAAAAAAAAAAAAAAAAA AAAA	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	67/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI1_chr9_34453805_34525984	34492493	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	382	0.0026	28	c.682 others(43): Show c.682-686_682-659dupATATATATATATATATATATATATATAT	DNAI1	ENSG00000122735.16	transcript	ENST00000242317.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAI3_chr1_85057327_85138138	85110450	C C	CAAATAAA others(21): Show CAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	374	0.0027	28	c.178 others(45): Show c.1786+321_1786+348dupAATAAATAAATAAATAAATAAATAAATA	DNAI3	ENSG00000162643.13	transcript	ENST00000294664.11	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAI4_chr1_66807885_66929856	66893071	A A	AAGAAAGA others(21): Show AAGAAAGAAAGAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA20129.hp2 HG02055.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0001 a0002c0002t0001 a0002c0004t0001	a0002c0002t0001g0118 a0002c0004t0001g0034 a0002c0002t0001g0118 a0002c0004t0001g0034	2	264	0.0076	28	c.530 others(43): Show c.530+157_530+158insCTTTTTCTTTCTTTCTTTCTTTCTTTCT	DNAI4	ENSG00000152763.17	transcript	ENST00000371026.8	protein_coding	3/16			chr1	TogoVar
DNAI7_chr12_25103289_25200160	25108825	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	336	0.0030	28	c.189 others(41): Show c.1894-3_1894-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	15/15			chr12	TogoVar
DNAI7_chr12_25103289_25200160	25120317	G G	GGAGAGAG others(21): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02056.hp1 HG02602.hp1 others(4): Show HG01496.hp1 HG02056.hp1 HG02602.hp1 HG02683.hp2 NA18747.hp2 NA19080.hp1 NA19081.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0012 a0001c0001 a0007c0012	a0001c0001t0001 a0007c0012t0001 a0001c0001t0001 a0007c0012t0001	a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0040 others(4): Show a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0057 a0001c0001t0001g0108 a0007c0012t0001g0061	7	336	0.0208	28	c.124 others(47): Show c.1240-1017_1240-1016insTCTCTCTCTCTCTCTCTCTCTCTCTC TC	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	11/15			chr12	TogoVar
DNAJA1_chr9_33020273_33044907	33039536	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02083.hp2 HG02683.hp1 HG02717.hp1 others(3): Show HG02083.hp2 HG02683.hp1 HG02717.hp1 NA19010.hp1 NA19011.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0036 a0001c0001t0010 a0001c0001t0036	a0001c0001t0010g0003 a0001c0001t0010g0005 a0001c0001t0010g0028 others(3): Show a0001c0001t0010g0003 a0001c0001t0010g0005 a0001c0001t0010g0028 a0001c0001t0010g0064 a0001c0001t0010g0109 a0001c0001t0036g0130	6	444	0.0135	28	c.64 others(37): Show c.644_*645insTATATATATATATATATATATATATATA	DNAJA1	ENSG00000086061.16	transcript	ENST00000330899.5	protein_coding	9/9	645	INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAJB11_chr3_186565720_186590793	186584602	A A	ATTGTGTG others(21): Show ATTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0060	1	370	0.0027	28	c.101 others(43): Show c.1012+13_1012+14insTTGTGTGTGTGTGTGTGTGTGTGTGTGT	DNAJB11	ENSG00000090520.12	transcript	ENST00000265028.8	protein_coding	9/9			chr3	TogoVar
DNAJB6_chr7_157332004_157422439	157357322	C C	CCTTTCTT others(21): Show CCTTTCTTTCTTTCTTTTTTTGAGACAGT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0327 a0001c0001t0003g0332 a0001c0001t0003g0327 a0001c0001t0003g0332	2	372	0.0054	28	c.-26 others(45): Show c.-26-1223_-26-1222insTTCTTTCTTTCTTTTTTTGAGACAGTCT	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157369727	C C	CACATTAT others(21): Show CACATTATTATTAAACAGGCCCCTTCTTA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0285 a0001c0001t0002g0285	1	372	0.0027	28	c.346 others(45): Show c.346+2265_346+2292dupCCTTCTTAACATTATTATTAAACAGGCC	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157369782	A A	AACGTTAT others(21): Show AACGTTATTATTAAACGGGCCCCTTCTTC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	372	0.0027	28	c.346 others(45): Show c.346+2301_346+2302insGTTATTATTAAACGGGCCCCTTCTTCAC	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157369782	A A	AACGTTAT others(21): Show AACGTTATTATTAAATGGGCCCCTTCTTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0365 a0001c0001t0001g0365	1	372	0.0027	28	c.346 others(45): Show c.346+2301_346+2302insGTTATTATTAAATGGGCCCCTTCTTCAC	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157369809	T T	TCACATTA others(21): Show TCACATTATTATTAAACAGGCCCCTTCTC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	372	0.0027	28	c.346 others(45): Show c.346+2326_346+2327insCACATTATTATTAAACAGGCCCCTTCTC	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9			chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157369865	C C	CACATTAT others(21): Show CACATTATTATTAAACAGGCCCCTTCTTA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0238	1	372	0.0027	28	c.346 others(45): Show c.346+2408_346+2409insTAACATTATTATTAAACAGGCCCCTTCT	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157370073	G G	GGGCCCCT others(21): Show GGGCCCCTTCTTAACATTATTATTAAACA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02055.hp1 HG02257.hp1 others(2): Show HG00735.hp2 HG02055.hp1 HG02257.hp1 HG02976.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0328 a0001c0001t0001g0331 a0001c0001t0001g0333 others(2): Show a0001c0001t0001g0328 a0001c0001t0001g0331 a0001c0001t0001g0333 a0001c0001t0002g0330 a0001c0001t0003g0142	5	372	0.0134	28	c.346 others(45): Show c.346+2617_346+2644dupCAGGCCCCTTCTTAACATTATTATTAAA	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157370154	G G	GGGCCCCT others(21): Show GGGCCCCTTCTTAACATTATTATTAAACA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp1 HG01099.hp2 others(23): Show HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01175.hp1 HG01358.hp1 HG01358.hp2 HG01517.hp1 HG01928.hp1 HG01981.hp1 HG02015.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp1 HG02738.hp2 HG03225.hp1 HG03654.hp2 HG03704.hp2 HG04199.hp1 NA18612.hp1 NA18948.hp2 NA18974.hp2 NA18977.hp1 NA18999.hp1 NA19011.hp2 NA19070.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0021	a0001c0001t0001g0062 a0001c0001t0001g0144 a0001c0001t0001g0292 others(23): Show a0001c0001t0001g0062 a0001c0001t0001g0144 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0297 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0319 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0331 a0001c0001t0001g0338 a0001c0001t0002g0252 a0001c0001t0002g0278 a0001c0001t0002g0285 a0001c0001t0002g0287 a0001c0001t0002g0296 a0001c0001t0002g0301 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0314 a0001c0001t0002g0318 a0001c0001t0003g0237 a0001c0001t0021g0246	26	372	0.0699	28	c.346 others(45): Show c.346+2698_346+2725dupCAGGCCCCTTCTTAACATTATTATTAAA	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJC11_chr1_6629170_6706816	6706343	T T	TATATATA others(21): Show TATATATATATATATATATATATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	366	0.0027	28	c.-45 others(39): Show c.-4544_-4543insGTATGTATATATATATATATATATATAT	DNAJC11	ENSG00000007923.17	transcript	ENST00000377577.10	protein_coding		4528		chr1	TogoVar
DNAJC11_chr1_6629170_6706816	6706343	T T	TATATATA others(21): Show TATATATATGTATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03516.hp2 NA18906.hp1 HG03041.hp1 HG03516.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0014 a0001c0001t0010 a0001c0001t0014	a0001c0001t0010g0229 a0001c0001t0014g0227 a0001c0001t0014g0228 a0001c0001t0010g0229 a0001c0001t0014g0227 a0001c0001t0014g0228	3	366	0.0082	28	c.-45 others(39): Show c.-4544_-4543insGTATATATATATATATATACATATATAT	DNAJC11	ENSG00000007923.17	transcript	ENST00000377577.10	protein_coding		4528		chr1	TogoVar
DNAJC12_chr10_67791669_67843188	67819660	G G	GAGAAAGA others(21): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18989.hp2 NA19010.hp2 HG01891.hp2 NA18989.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0156 a0001c0001t0001g0189 a0001c0001t0005g0125 a0001c0001t0001g0156 a0001c0001t0001g0189 a0001c0001t0005g0125	3	384	0.0078	28	c.157 others(45): Show c.157+3626_157+3653dupTTCTTTCTTTCTTTCTTTCTTTCTTTCT	DNAJC12	ENSG00000108176.15	transcript	ENST00000225171.7	protein_coding	2/4			chr10	TogoVar
DNAJC12_chr10_67791669_67843188	67819779	G G	GGGAAGGA others(21): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01099.hp2 HG01106.hp1 others(4): Show HG00140.hp2 HG01099.hp2 HG01106.hp1 HG01891.hp1 NA18944.hp1 NA19088.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0141 a0001c0001t0001g0161 a0001c0001t0001g0190 others(4): Show a0001c0001t0001g0141 a0001c0001t0001g0161 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0201 a0001c0001t0004g0292	7	384	0.0182	28	c.157 others(45): Show c.157+3507_157+3534dupTTCCTTCCTTCCTTCCTTCCTTCCTTCC	DNAJC12	ENSG00000108176.15	transcript	ENST00000225171.7	protein_coding	2/4			chr10	TogoVar
DNAJC12_chr10_67791669_67843188	67819816	G G	GGAAGGAA others(21): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0281 a0002c0003t0001g0281	1	384	0.0026	28	c.157 others(45): Show c.157+3497_157+3498insATTCCTTCCTTCCTTCCTTCCTTCCTTC	DNAJC12	ENSG00000108176.15	transcript	ENST00000225171.7	protein_coding	2/4			chr10	TogoVar
DNAJC13_chr3_132412502_132544032	132487559	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0305 a0001c0001t0002g0305	1	318	0.0031	28	c.326 others(45): Show c.3268-719_3268-718insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding	29/55		INFO_REALIGN_3_PRIME	chr3	TogoVar
DNAJC15_chr13_43018586_43119213	43024893	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0028 a0002c0003t0028	a0002c0003t0028g0301 a0002c0003t0028g0301	1	352	0.0028	28	c.108 others(45): Show c.108+1177_108+1178insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	DNAJC15	ENSG00000120675.6	transcript	ENST00000379221.4	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
DNAJC16_chr1_15521848_15576733	15544151	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01099.hp1 HG01192.hp1 others(12): Show HG01069.hp2 HG01099.hp1 HG01192.hp1 HG03130.hp2 HG03490.hp1 HG03492.hp1 HG04115.hp2 NA18941.hp1 NA18964.hp1 NA18969.hp2 NA18979.hp1 NA18988.hp2 NA19043.hp1 NA19064.hp1 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0004 a0001c0002t0003g0128 a0001c0002t0003g0129 others(9): Show a0001c0002t0003g0004 a0001c0002t0003g0128 a0001c0002t0003g0129 a0001c0002t0003g0148 a0001c0002t0003g0170 a0001c0002t0003g0171 a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0176 a0001c0002t0003g0177	15	356	0.0421	28	c.575 others(43): Show c.575-240_575-213dupCACACACACACACACACACACACACACA	DNAJC16	ENSG00000116138.13	transcript	ENST00000375847.8	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAJC18_chr5_139405203_139444525	139435705	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18969.hp2 NA18975.hp2 HG02040.hp1 NA18969.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0084 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0084	3	314	0.0096	28	c.227 others(45): Show c.227+1666_227+1667insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	DNAJC18	ENSG00000170464.10	transcript	ENST00000302060.10	protein_coding	2/7			chr5	TogoVar
DNAJC3_chr13_95672139_95799988	95704851	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG00642.hp1 others(11): Show HG00438.hp2 HG00621.hp2 HG00642.hp1 HG01256.hp2 HG01257.hp2 HG01496.hp1 HG02523.hp2 HG02572.hp2 HG02630.hp1 HG02738.hp2 HG03669.hp2 NA18941.hp2 NA18953.hp2 NA18999.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0001t0016 a0001c0001t0027 a0002c0002t0004 a0002c0002t0015	a0001c0001t0001g0272 a0001c0001t0004g0200 a0001c0001t0004g0203 others(11): Show a0001c0001t0001g0272 a0001c0001t0004g0200 a0001c0001t0004g0203 a0001c0001t0004g0205 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0239 a0001c0001t0005g0180 a0001c0001t0014g0235 a0001c0001t0016g0193 a0001c0001t0027g0240 a0002c0002t0004g0213 a0002c0002t0015g0232	14	374	0.0374	28	c.83- others(43): Show c.83-4358_83-4357insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DNAJC3	ENSG00000102580.15	transcript	ENST00000602402.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
DNAJC5G_chr2_27270433_27286499	27283764	G G	GCACACAC others(21): Show GCACACACGCACGCGCGCGCGCGCACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	340	0.0029	28	c.33 others(39): Show c.3354_*3355insCACACACGCACGCGCGCGCGCGCACACA	DNAJC5G	ENSG00000163793.13	transcript	ENST00000296097.8	protein_coding		2266		chr2	TogoVar
DNAJC6_chr1_65304543_65420871	65349091	A A	AATATATA others(21): Show AATATATATATATAAATATATATGTAAAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0003 a0002c0004t0003 a0001c0001t0003 a0002c0004t0003	a0001c0001t0003g0187 a0001c0001t0003g0234 a0002c0004t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0234 a0002c0004t0003g0186	3	326	0.0092	28	c.194 others(47): Show c.194-15533_194-15532insTAAATATATATGTAAATATATATATA TA	DNAJC6	ENSG00000116675.16	transcript	ENST00000371069.5	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAJC6_chr1_65304543_65420871	65380911	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0013 a0001c0006t0013	a0001c0006t0013g0225 a0001c0006t0013g0225	1	326	0.0031	28	c.666 others(45): Show c.666+1391_666+1392insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	DNAJC6	ENSG00000116675.16	transcript	ENST00000371069.5	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAJC6_chr1_65304543_65420871	65417065	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG02083.hp2 HG02602.hp2 others(15): Show HG00673.hp2 HG02083.hp2 HG02602.hp2 HG02895.hp1 HG02922.hp1 NA18948.hp2 NA18955.hp1 NA18966.hp2 NA18971.hp1 NA18972.hp2 NA18979.hp2 NA18985.hp1 NA18986.hp2 NA19011.hp2 NA19077.hp2 NA19084.hp1 NA19084.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0003t0001 a0001c0003t0003 a0002c0002t0001 a0002c0002t0003 a0002c0002t0007	a0001c0001t0001g0012 a0001c0001t0001g0079 a0001c0001t0001g0189 others(14): Show a0001c0001t0001g0012 a0001c0001t0001g0079 a0001c0001t0001g0189 a0001c0001t0001g0264 a0001c0001t0003g0294 a0001c0001t0007g0286 a0001c0003t0001g0085 a0001c0003t0003g0100 a0001c0003t0003g0146 a0002c0002t0001g0072 a0002c0002t0001g0098 a0002c0002t0001g0128 a0002c0002t0001g0175 a0002c0002t0001g0184 a0002c0002t0003g0066 a0002c0002t0003g0161 a0002c0002t0007g0209	18	326	0.0552	28	c.40 others(39): Show c.4040_*4041insATATATATATATATATATATATATATAT	DNAJC6	ENSG00000116675.16	transcript	ENST00000371069.5	protein_coding		1195		chr1	TogoVar
DNAL1_chr14_73639986_73708732	73648403	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG02145.hp1 others(3): Show HG01515.hp1 HG01517.hp2 HG02145.hp1 HG02486.hp2 HG02698.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0015 others(1): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0015 a0001c0001t0032	a0001c0001t0004g0038 a0001c0001t0008g0144 a0001c0001t0008g0145 others(3): Show a0001c0001t0004g0038 a0001c0001t0008g0144 a0001c0001t0008g0145 a0001c0001t0008g0146 a0001c0001t0015g0334 a0001c0001t0032g0089	6	340	0.0177	28	c.3+3 others(41): Show c.3+3375_3+3376insATATATATATATATATATATATATATAT	DNAL1	ENSG00000119661.15	transcript	ENST00000553645.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
DNASE1L1_chrX_154396236_154414254	154396712	A A	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0046 a0001c0002t0002g0046	1	279	0.0036	28	c.59 others(39): Show c.5994_*5995insAAAAAAAATATATATATATATATATATA	DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding		4523		chrX	TogoVar
DNASE1L1_chrX_154396236_154414254	154396712	A A	ATATATAT others(21): Show ATATATATATATATATATATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0043 a0001c0002t0002g0043	1	279	0.0036	28	c.59 others(39): Show c.5994_*5995insAAAAAAAAAATATATATATATATATATA	DNASE1L1	ENSG00000013563.14	transcript	ENST00000369807.6	protein_coding		4523		chrX	TogoVar
DNER_chr2_229352629_229719555	229546826	C C	CAGATAGA others(21): Show CAGATAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	176	0.0057	28	c.993 others(43): Show c.993+120_993+121insATCTATCTATCTATCTATCTATCTATCT	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	5/12			chr2	TogoVar
DNER_chr2_229352629_229719555	229668420	A A	ATATATAT others(21): Show ATATATATATATATATATATATATACACT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0006 a0002c0003t0001g0006	1	176	0.0057	28	c.276 others(47): Show c.276+45727_276+45728insAGTGTATATATATATATATATATATA TA	DNER	ENSG00000187957.8	transcript	ENST00000341772.5	protein_coding	1/12			chr2	TogoVar
DNM1L_chr12_32674301_32750650	32722870	T T	TTAAATAC others(21): Show TTAAATACTTATTTTTATAAGTATTTAAA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18994.hp2 NA19063.hp1 NA18953.hp1 NA18994.hp2 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0016 a0001c0002t0002 a0001c0002t0016	a0001c0002t0002g0030 a0001c0002t0002g0050 a0001c0002t0016g0017 a0001c0002t0002g0030 a0001c0002t0002g0050 a0001c0002t0016g0017	3	230	0.0130	28	c.107 others(45): Show c.1079+239_1079+240insAATACTTATTTTTATAAGTATTTAAATA	DNM1L	ENSG00000087470.21	transcript	ENST00000549701.6	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNM3_chr1_171836498_172417717	172071086	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01192.hp1 HG02145.hp1 others(1): Show HG00438.hp2 HG01192.hp1 HG02145.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0004 a0001c0002t0005 a0001c0001t0003 a0001c0002t0004 a0001c0002t0005	a0001c0001t0003g0034 a0001c0001t0003g0098 a0001c0002t0004g0046 others(1): Show a0001c0001t0003g0034 a0001c0001t0003g0098 a0001c0002t0004g0046 a0001c0002t0005g0122	4	136	0.0294	28	c.142 others(47): Show c.1422+2188_1422+2215dupATATATATATATATATATATATATAT AT	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172106847	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0118 a0001c0001t0013g0118	1	136	0.0074	28	c.154 others(49): Show c.1545+13996_1545+13997insTTTTTTTTTTTTTTTTTTTTTTTT TTTT	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172283780	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01256.hp1 HG03239.hp2 others(3): Show HG01192.hp2 HG01256.hp1 HG03239.hp2 HG06807.hp1 NA18612.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0007	a0001c0001t0001g0099 a0001c0001t0002g0055 a0001c0001t0002g0092 others(3): Show a0001c0001t0001g0099 a0001c0001t0002g0055 a0001c0001t0002g0092 a0001c0001t0002g0110 a0001c0001t0006g0010 a0001c0002t0007g0084	6	136	0.0441	28	c.177 others(49): Show c.1770-24945_1770-24944insAAAAAAAAAAAAAAAAAAAAGAAA GAAA	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNM3_chr1_171836498_172417717	172354112	T T	TGTGAGAG others(21): Show TGTGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0102 a0001c0002t0030g0102	1	136	0.0074	28	c.189 others(49): Show c.1894-24905_1894-24904insTGAGAGAGAGAGAGAGAGAGAGAG AGAG	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNMBP_chr10_99870577_100014947	99879101	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01891.hp2 HG03486.hp2 others(1): Show HG00423.hp1 HG01891.hp2 HG03486.hp2 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0018 a0003c0005 a0001c0018 a0003c0005	a0001c0018t0004 a0003c0005t0004 a0001c0018t0004 a0003c0005t0004	a0001c0018t0004g0249 a0003c0005t0004g0128 a0003c0005t0004g0137 others(1): Show a0001c0018t0004g0249 a0003c0005t0004g0128 a0003c0005t0004g0137 a0003c0005t0004g0141	4	274	0.0146	28	c.454 others(45): Show c.4548+709_4548+710insGTTTTTTTTTTTTTTTTTTTTTTTTTTT	DNMBP	ENSG00000107554.17	transcript	ENST00000324109.9	protein_coding	16/16			chr10	TogoVar
DNMT3A_chr2_25222874_25346925	25226707	C C	CATTTATT others(21): Show CATTTATTTATTTATTTATTTATTTATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01975.hp1 HG01975.hp2 others(2): Show HG01256.hp2 HG01975.hp1 HG01975.hp2 HG04204.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0026 a0001c0001t0055 others(2): Show a0001c0001t0004 a0001c0001t0026 a0001c0001t0055 a0001c0001t0100 a0001c0003t0024	a0001c0001t0004g0007 a0001c0001t0026g0102 a0001c0001t0055g0261 others(2): Show a0001c0001t0004g0007 a0001c0001t0026g0102 a0001c0001t0055g0261 a0001c0001t0100g0022 a0001c0003t0024g0098	5	294	0.0170	28	c.75 others(39): Show c.7571_*7572insAAATAAATAAATAAATAAATAAATAAAT	DNMT3A	ENSG00000119772.19	transcript	ENST00000321117.10	protein_coding		1166		chr2	TogoVar
DNPEP_chr2_219367043_219392912	219369629	A A	ACACACAC others(21): Show ACACACACACACACACACACACACACACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0028 a0001c0001t0007g0028	1	370	0.0027	28	c.46 others(39): Show c.4662_*4663insCGTGTGTGTGTGTGTGTGTGTGTGTGTG	DNPEP	ENSG00000123992.20	transcript	ENST00000273075.9	protein_coding		2413		chr2	TogoVar
DNPEP_chr2_219367043_219392912	219380842	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01891.hp2 HG01934.hp2 others(3): Show HG01496.hp1 HG01891.hp2 HG01934.hp2 HG02004.hp1 HG02148.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0115 a0001c0001t0001g0116 others(1): Show a0001c0001t0001g0032 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0152	6	370	0.0162	28	c.123 others(45): Show c.1239+492_1239+493insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	DNPEP	ENSG00000123992.20	transcript	ENST00000273075.9	protein_coding	13/14			chr2	TogoVar

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